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Article

Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.

European journal of neurology - 1 Aug 2023

Scaber Jakub, Thompson Alexander G, Farrimond Lucy, Feneberg Emily, Proudfoot Malcolm, Ossher Lynn, Turner Martin R, Talbot Kevin

Abstract excerpt

BACKGROUND: Next-generation sequencing has enhanced our understanding of amyotrophic lateral sclerosis (ALS) and its genetic epidemiology. Outside the research setting, testing is often restricted to those who report a family history. The aim of this study was to explore the added benefit of offering routine genetic testing to all patients in a regional ALS centre. METHODS: C9ORF72 expansion testing and exome...

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Identifiers

PMID: 37159497
DOI: 10.1111/ene.15855
PMCID: PMC10947345

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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